NM_001128929.3(ROBO2):c.383C>T (p.Ala128Val) AND Congenital anomalies of kidney and urinary tract

Clinical significance:Likely benign (Last evaluated: Jan 9, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001290213.1

Allele description [Variation Report for NM_001128929.3(ROBO2):c.383C>T (p.Ala128Val)]

NM_001128929.3(ROBO2):c.383C>T (p.Ala128Val)

Gene:
ROBO2:roundabout guidance receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p12.3
Genomic location:
Preferred name:
NM_001128929.3(ROBO2):c.383C>T (p.Ala128Val)
HGVS:
  • NC_000003.12:g.77098287C>T
  • NG_027734.1:g.1196594C>T
  • NG_027734.2:g.1196594C>T
  • NM_001128929.3:c.383C>T
  • NM_001290039.2:c.335C>T
  • NM_001290040.2:c.335C>T
  • NM_001290065.2:c.-1584C>T
  • NM_002942.5:c.335C>T
  • NP_001122401.1:p.Ala128Val
  • NP_001276968.1:p.Ala112Val
  • NP_001276969.1:p.Ala112Val
  • NP_002933.1:p.Ala112Val
  • NC_000003.11:g.77147438C>T
  • NM_002942.4:c.335C>T
  • c.C335T
  • p.A112V
Protein change:
A112V
Links:
dbSNP: rs780623744
NCBI 1000 Genomes Browser:
rs780623744
Molecular consequence:
  • NM_001290065.2:c.-1584C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001128929.3:c.383C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290039.2:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290040.2:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002942.5:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital anomalies of kidney and urinary tract (CAKUT)
Synonyms:
Congenital anomalies of the kidney and urinary tract
Identifiers:
MONDO: MONDO:0019719; MedGen: C1968949; OMIM: PS610805

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001468575Institute of Human Genetics, University of Leipzig Medical Centercriteria provided, single submitter
Likely benign
(Jan 9, 2021)
germlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, et al.

Genet Med. 2017 Apr;19(4):412-420. doi: 10.1038/gim.2016.131. Epub 2016 Sep 22.

PubMed [citation]
PMID:
27657687
PMCID:
PMC5362362

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001468575.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedcuration PubMed (2)

Description

This ROBO2 variant was reported as Uncertain Significance in PMID: 27657687 with original nomenclature reported as c.C335T, p.A112V. Variant was re-classified as Likely Benign based on the criteria PM1_Moderate, PM2_Supporting, BS1_Moderate, BS2_Moderate.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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